X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism (Q48590026)

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scientific article published in February 2006

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Language	Label	Description	Also known as
English	X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism	scientific article published in February 2006

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

title

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

main subject

autism

0 references

Severe mental retardation

1 reference

based on heuristic

inferred from title

creatine transporter deficiency

1 reference

based on heuristic

inferred from title

author name string

P Póo-Argüelles

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

A Arias

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

M A Vilaseca

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

A Ribes

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

R Artuch

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

A Sans-Fito

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

A Moreno

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

C Jakobs

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

G Salomons

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

publication date

1 February 2006

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

published in

Journal of Inherited Metabolic Disease

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

volume

29

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

issue

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

page(s)

220-223

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

cites work

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS10545-006-0212-4

retrieved

21 January 2018

Creatine deficiency in the brain: a new, treatable inborn error of metabolism

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS10545-006-0212-4

retrieved

21 January 2018

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine monohydrate supplementation on body weight and percent body fat.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of SLC6A8 deficiency in X-linked mental retardation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital creatine transporter deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-linked creatine transporter defect: an overview

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reversible brain creatine deficiency in two sisters with normal blood creatine level

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical syndrome of creatine transporter deficiency

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16601898

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10545-006-0212-4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

PubMed publication ID

16601898

1 reference

stated in

Europe PubMed Central

PubMed publication ID

16601898

retrieved

13 February 2018

reference URL

http://europepmc.org/abstract/MED/16601898

 

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